Nuclear envelopathies--raising the nuclear veil (Q36092186)

12 August 2017

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title

Nuclear envelopathies--raising the nuclear veil (English)

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12 August 2017

4

Gideon Rechavi

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12 August 2017

3

Ninette Amariglio

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12 August 2017

5

Amos J Simon

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12 August 2017

1

Raz Somech

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12 August 2017

2

Sigal Shaklai

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12 August 2017

language of work or name

English

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publication date

6 April 2005

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12 August 2017

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12 August 2017

volume

57

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12 August 2017

issue

5 Pt 2

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12 August 2017

page(s)

8R-15R

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Nuclear lamins: their structure, assembly, and interactions

12 August 2017

cites work

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https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Nuclear lamins: building blocks of nuclear architecture

21 January 2018

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Lamins: building blocks or regulators of gene expression?

21 January 2018

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Life at the edge: the nuclear envelope and human disease

21 January 2018

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MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin

21 January 2018

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Barrier-to-autointegration factor (BAF) bridges DNA in a discrete, higher-order nucleoprotein complex

21 January 2018

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Inner nuclear membrane proteins: functions and targeting

21 January 2018

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Involvement of the lamin rod domain in heterotypic lamin interactions important for nuclear organization

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Insertional mutation of the Drosophila nuclear lamin Dm0 gene results in defective nuclear envelopes, clustering of nuclear pore complexes, and accumulation of annulate lamellae

21 January 2018

1 reference

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Roles of LAP2 proteins in nuclear assembly and DNA replication: truncated LAP2beta proteins alter lamina assembly, envelope formation, nuclear size, and DNA replication efficiency in Xenopus laevis extracts

21 January 2018

1 reference

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HA95 and LAP2 beta mediate a novel chromatin-nuclear envelope interaction implicated in initiation of DNA replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Alteration of nuclear lamin organization inhibits RNA polymerase II-dependent transcription

21 January 2018

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Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

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The characterization and localization of the mouse thymopoietin/lamina-associated polypeptide 2 gene and its alternatively spliced products

21 January 2018

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The laminopathies: nuclear structure meets disease

21 January 2018

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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

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Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

21 January 2018

1 reference

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

21 January 2018

1 reference

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

21 January 2018

1 reference

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Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

21 January 2018

1 reference

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Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes

21 January 2018

1 reference

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Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome

21 January 2018

1 reference

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A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

1 reference

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Hutchinson-Guilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Lamin a truncation in Hutchinson-Gilford progeria.

21 January 2018

1 reference

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Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

A progeroid syndrome in mice is caused by defects in A-type lamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

LMNA mutations in atypical Werner's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

How do mutations in lamins A and C cause disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Cytoskeletal defects in cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Emerin interacts in vitro with the splicing-associated factor, YT521-B

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Transcriptional repression of euchromatic genes by Drosophila heterochromatin protein 1 and histone modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Dynamic associations of heterochromatin protein 1 with the nuclear envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Histones H3/H4 form a tight complex with the inner nuclear membrane protein LBR and heterochromatin protein 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

The nuclear lamina and its functions in the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

The nuclear envelope, muscular dystrophy and gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Nuclear membrane proteins with potential disease links found by subtractive proteomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000159566.54287.6C

10.1203/01.PDR.0000159566.54287.6C

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

12 August 2017

1009146867

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Fatcat ID

release_rqczpc3xrjh6xngczthr3yqbjm

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Fatcat

https://api.fatcat.wiki/v0/release/rqczpc3xrjh6xngczthr3yqbjm

mapped directly with Wikidata item

24 November 2022

based on heuristic

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